Overview

• Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes.
• Pathophysiology:
  • Lysosome rupture leads to tissue damage.
  • Primarily affects skeletal and cardiac muscles.

  Clinical Presentation

  • Infantile-Onset Pompe Disease (IOPD):
    • Onset: First few months of life.
    • Symptoms:
      • Muscle weakness and hypotonia.
      • Developmental delay.
      • Feeding difficulties and failure to thrive.
      • Macroglossia (enlarged tongue).
      • Hypertrophic cardiomyopathy.

      Login to Read More

      Information

      Published:10 December 2024 Last Updated:10 December 2024